|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that mutations in the inwardly rectifying K(+) channel gene KCNJ10 are associated with nonsyndromic hearing loss in carriers of SLC26A4 mutations with an EVA/PS phenotype.
|
19426954 |
2009 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease.
|
9398842 |
1997 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with SLC26A4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome.
|
24007330 |
2014 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pendred syndrome is inherited as an autosomal recessive trait and has recently been mapped to 7q31 coincident with the non-syndromic deafness locus DFNB4.
|
9039988 |
1997 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
|
8630497 |
1996 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Subjects with biallelic GJB2 mutations were tested for mutations in the SLC26A4 gene to rule out Pendred syndrome as a confounding cause of large vestibular aqueduct syndrome.
|
17146393 |
2006 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC26A4 cause Pendred syndrome, an autosomal-recessive disorder characterized by sensorineural deafness and goiter, and DFNB4, a type of autosomal recessive nonsyndromic deafness in which, by definition, affected persons do not have thyromegaly.
|
14679580 |
2004 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD).
|
20597900 |
2010 |
|
Pendred's syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The PDS gene (SLC26A4) is responsible for Pendred syndrome (PS).
|
21035230 |
2011 |
|
Pendred's syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The shape and function of thyroid were confirmed to be normal by thyroid ultrasound scan and thyroid hormone assays in 19 of the 20 patients with EVA or other inner ear malformation except one who had cystoid change in the right side of thyroid.No Pendred syndrome was diagnosed.
|
19040761 |
2008 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The number of SLC26A4 mutations is associated with severity and variability of inner ear morphology and hearing level in individuals with PS or NSEVA.
|
31633822 |
2019 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Expression of mRNAs from thyroglobulin (Tg), TSH receptor (TSHR), thyroid peroxidase (TPO), sodium/iodide symporter (NIS), and the Pendred's syndrome (PDS) genes were analyzed by quantitative reverse transcription-polymerase chain reaction.
|
18187871 |
2008 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
|
19017801 |
2008 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PDS can cause its retention in the ER and are associated with Pendred syndrome.
|
15784681 |
2005 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pendred syndrome, the most frequent syndromic form of hereditary hearing loss, is associated with mutations in the anion exchanger pendrin.
|
28052261 |
2017 |
|
Pendred's syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Besides clinical and radiological assessments, molecular and functional studies are essential for the correct diagnosis of Pendred syndrome and non-syndromic EVA.
|
22116360 |
2011 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deleterious mutations of SLC26A4 cause Pendred syndrome (PS), an autosomal recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA), and nonsyndromic hearing loss (NSHL).
|
21045265 |
2010 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A case of PS with huge goiter and congenital hearing impairment was diagnosed by mutational analysis of the PDS gene.
|
12112546 |
2002 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Therefore, to determine whether the variant was specifically associated with Pendred Syndrome (PDS) or DFNB4, biochemical analyses, PTA, thyroid scans by Tc99m, perchlorate discharge test and high-resolution CT scan of the temporal bone were carried out on the affected family members.
|
31187663 |
2019 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SLC26A4 gene cause both classical PS and deafness associated with an enlarged vestibular aqueduct without goiter.
|
15531480 |
2004 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we generated a knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation to mimic the most common mutation found in human.
|
31155292 |
2019 |
|
Pendred's syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Although many questions remain to be answered, these recent achievements concerning the putative role of pendrin aid to better understand the genetic basis of the peculiar phenotype of Pendred's syndrome, which associate the dysfunction of two so different organs such as the thyroid and the inner ear.
|
11573133 |
2001 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we characterized the thyroid status and identified mutations in the SLC26A4 gene in Chinese subjects with PS.
|
17697873 |
2007 |
|
Pendred's syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The primary defect is not yet known, although the gene causing Pendred syndrome has been localized very recently on chromosome 7q, a region that also contains a gene responsible for nonsyndromal hearing loss (DFNB4).
|
9070918 |
1997 |
|
Pendred's syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Together, these data suggest that SLC26A4, FOXI1 and KCNJ10 are not major determinants in unilateral deafness and enlarged vestibular aqueduct compared with their implication in Pendred syndrome and non-syndromic bilateral enlarged vestibular aqueduct.
|
20621367 |
2010 |